Aims'Hot phases', characterized by chest pain and troponin release, may represent the first clinical presentation of arrhythmogenic cardiomyopathies. Differential diagnosis with acute myocarditis is an unmet challenge for the clinicians. We sought to investigate histological and genetic features in patients with cardiomyopathy presenting with hot phases.Methods and resultsWe evaluated a case series of consecutive patients hospitalized for suspected 'hot-phase cardiomyopathy' in two Italian centres from June 2017 to March 2022 (median follow-up 18 months) that underwent both endomyocardial biopsy (EMB) and genetic testing. Apoptosis was confirmed with TUNEL assay. Among the 17 enrolled patients (mean age 34 +/- 15 years, 76% male), only six patients (35%) presented standard histological and immunohistochemical markers for significant cardiac inflammation at EMB. Conversely, apoptosis was found in 13 patients (77%). Genetic testing was positive for a pathogenic/likely pathogenic (P/LP) variant in genes involved in cardiomyopathies (most frequently in DSP) in eight patients (48%), rising to 62% among patients with apoptosis on EMB. Notably, all patients without apoptosis tested negative for P/LP disease-related variants. Left ventricular ejection fraction was lower in patients showing apoptosis at EMB compared to those without (p = 0.003).ConclusionsApoptosis, rather than significant inflammation, was mostly prevalent in this case series of patients with 'hot-phase' presentation, especially in carriers of variants in cardiomyopathy-related genes. Detecting apoptosis on EMB might guide clinicians in performing genetic testing and in more tailored therapeutic choices in 'hot-phase cardiomyopathy'.Seventeen patients hospitalized for suspected hot-phase cardiomyopathy underwent both endomyocardial biopsy (EMB) and genetic testing: histological detection of apoptosis at EMB was frequent (77% of cases) and all patients that tested positive for pathogenic/likely pathogenic variants showed apoptosis at EMB. In patients with apoptosis at EMB, left ventricular ejection fraction was lower at first clinical presentation and improved during follow-up with anti-neurohormonal therapy. dagger image
Apoptosis, a useful marker in the management of hot‐phase cardiomyopathy?
Loffredo, Francesco;Golino, Paolo;Limongelli, Giuseppe;
2024
Abstract
Aims'Hot phases', characterized by chest pain and troponin release, may represent the first clinical presentation of arrhythmogenic cardiomyopathies. Differential diagnosis with acute myocarditis is an unmet challenge for the clinicians. We sought to investigate histological and genetic features in patients with cardiomyopathy presenting with hot phases.Methods and resultsWe evaluated a case series of consecutive patients hospitalized for suspected 'hot-phase cardiomyopathy' in two Italian centres from June 2017 to March 2022 (median follow-up 18 months) that underwent both endomyocardial biopsy (EMB) and genetic testing. Apoptosis was confirmed with TUNEL assay. Among the 17 enrolled patients (mean age 34 +/- 15 years, 76% male), only six patients (35%) presented standard histological and immunohistochemical markers for significant cardiac inflammation at EMB. Conversely, apoptosis was found in 13 patients (77%). Genetic testing was positive for a pathogenic/likely pathogenic (P/LP) variant in genes involved in cardiomyopathies (most frequently in DSP) in eight patients (48%), rising to 62% among patients with apoptosis on EMB. Notably, all patients without apoptosis tested negative for P/LP disease-related variants. Left ventricular ejection fraction was lower in patients showing apoptosis at EMB compared to those without (p = 0.003).ConclusionsApoptosis, rather than significant inflammation, was mostly prevalent in this case series of patients with 'hot-phase' presentation, especially in carriers of variants in cardiomyopathy-related genes. Detecting apoptosis on EMB might guide clinicians in performing genetic testing and in more tailored therapeutic choices in 'hot-phase cardiomyopathy'.Seventeen patients hospitalized for suspected hot-phase cardiomyopathy underwent both endomyocardial biopsy (EMB) and genetic testing: histological detection of apoptosis at EMB was frequent (77% of cases) and all patients that tested positive for pathogenic/likely pathogenic variants showed apoptosis at EMB. In patients with apoptosis at EMB, left ventricular ejection fraction was lower at first clinical presentation and improved during follow-up with anti-neurohormonal therapy. dagger imageI documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
